Source: UNIPROT

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0023264 Leigh Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 9 21
C1855008 Mitochondrial Complex II Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 3 5
C3150898 CARDIOMYOPATHY, DILATED, 1GG disease Disease or Syndrome genetic disease; disease of anatomical entity 1 1
C3279992 PARAGANGLIOMAS 5 disease Disease or Syndrome genetic disease; disease of anatomical entity; disease of cellular proliferation 1 1